Canonical Allele Identifier: CA309326200

Gene: PRPF31

Linked Data

• ClinVar Variation Id: 330101
• ClinVar RCV Id: RCV000304059 ; RCV003765908
• dbSNP Id: rs763372742
• gnomAD v3: 19-54124668-G-A
• gnomAD v4: 19-54124668-G-A
• MyVariant Identifiers: chr19:g.54124668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54124668G>A , CM000681.2:g.54124668G>A	GRCh38
NC_000019.8:g.59319859G>A	NCBI36
NG_009759.1:g.14258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321030.9:c.855+12G>A MANE Select	ENSP00000324122.4:n.855+12G>A
ENST00000321030.8:c.855+12G>A	ENSP00000324122.4:n.855+12G>A
ENST00000391755.1:c.855+12G>A	ENSP00000375635.1:n.855+12G>A
ENST00000419967.5:c.855+12G>A	ENSP00000405166.2:n.855+12G>A
ENST00000466404.5:n.725+12G>A
ENST00000498612.1:n.638+12G>A
NM_015629.3:c.855+12G>A	NP_056444.3:n.855+12G>A
XM_006723137.2:c.855+12G>A	XP_006723200.1:n.855+12G>A
XR_935789.1:n.904+12G>A
XM_006723137.4:c.855+12G>A	XP_006723200.1:n.855+12G>A
XR_002958293.1:n.985+12G>A
XR_935789.3:n.916+12G>A
NM_015629.4:c.855+12G>A MANE Select	NP_056444.3:n.855+12G>A